A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

BACKGROUND: Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute...

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Bibliographic Details
Published in:BMC Pediatr
Main Authors: Vidanapathirana, Dinesha Maduri, Jayasena, Subashinie, Jasinge, Eresha, Stiburkova, Blanka
Format: Artigo
Language:Inglês
Published: BioMed Central 2018
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6025733/
https://ncbi.nlm.nih.gov/pubmed/29958533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1185-9
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